De novo CLPTM1 variants with reduced GABAAR current response in patients with epilepsy

De novo CLPTM1 variants with reduced GABAAR current response in patients with epilepsy
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DOI：
10.1111/epi.17746
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发表时间：
2023-08
期刊：
Epilepsia
影响因子：
5.6
通讯作者：
Nana Liu;Jinliang Li;Kai Gao;Riley E. Perszyk;Jing Zhang;Jingmin Wang;Ye Wu;A. Jenkins;
Nana Liu;Jinliang Li;Kai Gao;Riley E. Perszyk;Jing Zhang;Jingmin Wang;Ye Wu;A. Jenkins;
中科院分区：
医学1区
文献类型：
--
作者：
Nana Liu;Jinliang Li;Kai Gao;Riley E. Perszyk;Jing Zhang;Jingmin Wang;Ye Wu;A. Jenkins;

文献摘要

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To investigate the clinical features and potential pathogenesis mechanism of de novo CLPTM1 variants associated with epilepsy.